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dbVar

Database of genomic structural variation

nsv7096699

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:96,292

Description:
See descriptions for individual calls in download files

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 320 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):155,084,168-155,180,459

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096699	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	155,084,168	155,180,459
nsv7096699	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	154,801,957	154,898,248

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788677	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003109633.1, VCV002425709.2
nssv18788678	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV003109634.2, VCV002425710.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18788677	Remapped	Perfect	NC_000003.12:g.(?_ 155084168)_(155180 459_?)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	155,084,168	155,180,459
nssv18788678	Remapped	Perfect	NC_000003.12:g.(?_ 155084168)_(155180 459_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	155,084,168	155,180,459
nssv18788677	Submitted genomic		NC_000003.11:g.(?_ 154801957)_(154898 248_?)del	GRCh37 (hg19)		NC_000003.11	Chr3	154,801,957	154,898,248
nssv18788678	Submitted genomic		NC_000003.11:g.(?_ 154801957)_(154898 248_?)dup	GRCh37 (hg19)		NC_000003.11	Chr3	154,801,957	154,898,248

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18788677	GRCh37: NC_000003.11:g.(?_154801957)_(154898248_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003109633.1, VCV002425709.2
nssv18788678	GRCh37: NC_000003.11:g.(?_154801957)_(154898248_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV003109634.2, VCV002425710.2

No genotype data were submitted for this variant

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